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Volumn 28, Issue 1, 1999, Pages 145-172

Inborn errors of bile acid biosynthesis and transport

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID;

EID: 0032908804     PISSN: 08898553     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8553(05)70048-0     Document Type: Article
Times cited : (36)

References (85)
  • 1
    • 0027957852 scopus 로고
    • Histologic pathology of the liver in progressive familial intrahepatic cholestasis
    • E.M. Alonso D.C. Snover A. Montag Histologic pathology of the liver in progressive familial intrahepatic cholestasis J Pediatr Gastroenterol Nutr 18 1994 128 133
    • (1994) J Pediatr Gastroenterol Nutr , vol.18 , pp. 128-133
    • Alonso, E.M.1    Snover, D.C.2    Montag, A.3
  • 2
    • 85119796426 scopus 로고
    • (Foreword) Neonatal cholestasis: Lessons from the past issues from the future
    • W.F. Balistreri (Foreword) Neonatal cholestasis: Lessons from the past issues from the future Balistreri W.F. Seminars in Liver Disease 1987 Thieme Medical Publishers New York
    • (1987)
    • Balistreri, W.F.1
  • 3
    • 0025863624 scopus 로고
    • Fetal and bile acid synthesis and metabolism: Clinical implications
    • W.F. Balistreri Fetal and bile acid synthesis and metabolism: Clinical implications J Inherit Metab Dis 14 1991 459 477
    • (1991) J Inherit Metab Dis , vol.14 , pp. 459-477
    • Balistreri, W.F.1
  • 4
    • 0010535440 scopus 로고
    • Inborn errors of bile acid biosynthesis: Clinical and therapeutic aspects
    • W.F. Balistreri Inborn errors of bile acid biosynthesis: Clinical and therapeutic aspects Hofmann A.F. Paumgartner G. Stiehl A. Bile Acids in Gastroenterology: Basic and Clinical Advances 1995 Kluwer Academic Publishers London 333 353
    • (1995) , pp. 333-353
    • Balistreri, W.F.1
  • 5
    • 85119789274 scopus 로고    scopus 로고
    • The liver—the next frontier in the treatment of patients with cystic fibrosis
    • W.F. Balistreri The liver—the next frontier in the treatment of patients with cystic fibrosis Reyes H.B. Leuschner U. Arias I. Pregnancy, Sex Hormones, and the Liver. Proceedings of the 89th Falk Symposium 1996 Lancaster, UK Kluwer Academic Publishers
    • (1996)
    • Balistreri, W.F.1
  • 6
    • 85119788644 scopus 로고    scopus 로고
    • Liver disease in infancy and childhood
    • W.F. Balistreri Liver disease in infancy and childhood Schiff E.R. Maddrey W. Sorrell Diseases of the Liver ed 8 1998 Lippincott-Raven Publishers Philadelphia
    • (1998)
    • Balistreri, W.F.1
  • 7
    • 0021232858 scopus 로고
    • Urinary excretion of dicarboxylic acids from patients with the Zellweger syndrome: Importance of peroxisomes in beta-oxidation of dicarboxylic acids
    • I. Bjorkhem S. Blomstrands P. Haga Urinary excretion of dicarboxylic acids from patients with the Zellweger syndrome: Importance of peroxisomes in beta-oxidation of dicarboxylic acids Biochim Biophys Acta 795 1984 15
    • (1984) Biochim Biophys Acta , vol.795 , pp. 15
    • Bjorkhem, I.1    Blomstrands, S.2    Haga, P.3
  • 8
    • 0001003949 scopus 로고
    • Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
    • I. Bjorkhem K.M. Boberg Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Bases of Inherited Disease ed 7 1995 McGraw-Hill New York
    • (1995)
    • Bjorkhem, I.1    Boberg, K.M.2
  • 9
    • 0025602665 scopus 로고
    • Lack of 3β-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3β-hydroxy-Δ5-bile acids: A new inborn error of metabolism
    • 5-bile acids: A new inborn error of metabolism J Clin Invest 86 1990 2034 2037
    • (1990) J Clin Invest , vol.86 , pp. 2034-2037
    • Buchmann, M.S.1    Kvittingen, E.A.2    Nazer, H.3
  • 10
    • 0022654796 scopus 로고
    • Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children
    • S.S. Budden N.G. Kennaway D. Phil Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children J Pediatr 108 1986 33 39
    • (1986) J Pediatr , vol.108 , pp. 33-39
    • Budden, S.S.1    Kennaway, N.G.2    Phil, D.3
  • 11
    • 0031907132 scopus 로고    scopus 로고
    • A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    • Bull L.N. van Eijk M.J.T. L. Pawlikowska A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis Nat Genet 18 1998 219 223
    • (1998) Nat Genet , vol.18 , pp. 219-223
    • Bull, L.N.1    van Eijk, M.J.T.2    Pawlikowska, L.3
  • 12
    • 0029038668 scopus 로고
    • Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
    • V.E.H. Carlton A.S. Knisely N.B. Freimer Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region Hum Mol Genet 4 1995 1049 1053
    • (1995) Hum Mol Genet , vol.4 , pp. 1049-1053
    • Carlton, V.E.H.1    Knisely, A.S.2    Freimer, N.B.3
  • 13
    • 0031889041 scopus 로고    scopus 로고
    • Extrahepatic deposition and cytotoxicity of lithocholic acid: Studies in two hamster models of hepatic failure and in cultured human fibroblasts
    • S. Ceryak B. Bouscarel M. Malavolti Extrahepatic deposition and cytotoxicity of lithocholic acid: Studies in two hamster models of hepatic failure and in cultured human fibroblasts Hepatology 27 1998 546 556
    • (1998) Hepatology , vol.27 , pp. 546-556
    • Ceryak, S.1    Bouscarel, B.2    Malavolti, M.3
  • 14
    • 0000778664 scopus 로고    scopus 로고
    • Regulation of bile acid synthesis
    • J.Y.L. Chiang Regulation of bile acid synthesis Front Biosci 3 1998 D176 D193
    • (1998) Front Biosci , vol.3 , pp. D176-D193
    • Chiang, J.Y.L.1
  • 15
    • 0025169032 scopus 로고
    • A new peroxisomal disorder: di and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency
    • Christensen E. Van Eldere J. N.J. Brandt A new peroxisomal disorder: di and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency J Inherit Metab Dis 13 1990 363 366
    • (1990) J Inherit Metab Dis , vol.13 , pp. 363-366
    • Christensen, E.1    Van Eldere, J.2    Brandt, N.J.3
  • 16
    • 0025875876 scopus 로고
    • Inborn errors of bile acid metabolism
    • P.T. Clayton Inborn errors of bile acid metabolism J Inherit Metab Dis 14 1991 478 496
    • (1991) J Inherit Metab Dis , vol.14 , pp. 478-496
    • Clayton, P.T.1
  • 17
    • 0028942689 scopus 로고
    • Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: A new inborn error of bile acid synthesis?
    • P.T. Clayton M. Casteels G. Mieli-Vergani Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: A new inborn error of bile acid synthesis? Pediatr Res 37 1995 424 431
    • (1995) Pediatr Res , vol.37 , pp. 424-431
    • Clayton, P.T.1    Casteels, M.2    Mieli-Vergani, G.3
  • 18
    • 0023193394 scopus 로고
    • Familial giant cell hepatitis associated with synthesis of 3β, 7α-dihydroxy and 3β, 7α, 12α-trihydroxy-5-cholenoic acids
    • P.T. Clayton J.V. Leonard A.M. Lawson Familial giant cell hepatitis associated with synthesis of 3β, 7α-dihydroxy and 3β, 7α, 12α-trihydroxy-5-cholenoic acids J Clin Invest 79 1987 1031 1038
    • (1987) J Clin Invest , vol.79 , pp. 1031-1038
    • Clayton, P.T.1    Leonard, J.V.2    Lawson, A.M.3
  • 19
    • 0030007164 scopus 로고    scopus 로고
    • Delta 4-3-oxosteroid 5 beta-reductase deficiency: Failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid
    • P.T. Clayton K.A. Mills A.W. Johnson Delta 4-3-oxosteroid 5 beta-reductase deficiency: Failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid Gut 38 1996 623 628
    • (1996) Gut , vol.38 , pp. 623-628
    • Clayton, P.T.1    Mills, K.A.2    Johnson, A.W.3
  • 20
    • 0025359856 scopus 로고
    • Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency
    • P.T. Clayton E. Patel A.M. Lawson Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency J Clin Invest 85 1990 1267 1273
    • (1990) J Clin Invest , vol.85 , pp. 1267-1273
    • Clayton, P.T.1    Patel, E.2    Lawson, A.M.3
  • 21
    • 0031460172 scopus 로고    scopus 로고
    • The optimized use of gas chromatography-mass spectrometry and high performance liquid chromatography to analyse the serum bile acids of patients with metabolic cholestasis and peroxisomal disorders
    • F. Courillon M.F. Gerhardt A. Myara The optimized use of gas chromatography-mass spectrometry and high performance liquid chromatography to analyse the serum bile acids of patients with metabolic cholestasis and peroxisomal disorders Eur J Clin Chem Clin Biochem 35 1997 919 922
    • (1997) Eur J Clin Chem Clin Biochem , vol.35 , pp. 919-922
    • Courillon, F.1    Gerhardt, M.F.2    Myara, A.3
  • 22
    • 0021132819 scopus 로고
    • Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome
    • N.S. Datta G.N. Wilson A.K. Hajra Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome N Engl J Med 311 1984 1080
    • (1984) N Engl J Med , vol.311 , pp. 1080
    • Datta, N.S.1    Wilson, G.N.2    Hajra, A.K.3
  • 23
    • 0027370660 scopus 로고
    • Resolution of hepatic biopsy alterations in 3 siblings with bile acid treatment of an inborn error of bile acid metabolism (Δ4-3-oxosteroid 5β-reductase deficiency)
    • 4-3-oxosteroid 5β-reductase deficiency) Hepatology 18 1993 1096 1101
    • (1993) Hepatology , vol.18 , pp. 1096-1101
    • Daugherty, C.C.1    Setchell, K.D.R.2    Heubi, J.E.3
  • 24
    • 0029990296 scopus 로고    scopus 로고
    • Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
    • J.F. Deleuze E. Jacquemin C. Dubuisson Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis Hepatology 23 1996 904 908
    • (1996) Hepatology , vol.23 , pp. 904-908
    • Deleuze, J.F.1    Jacquemin, E.2    Dubuisson, C.3
  • 25
    • 0040284751 scopus 로고    scopus 로고
    • Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
    • De Vree J.M. E. Jacquemin E. Sturm Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis Proc Natl Acad Sci U S A 95 1998 282 287
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 282-287
    • De Vree, J.M.1    Jacquemin, E.2    Sturm, E.3
  • 26
    • 0022642550 scopus 로고
    • Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): Clinical and biochemical findings similar to those observed in Zellweger syndrome
    • J. Elk B.F. Kase A. Reith Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): Clinical and biochemical findings similar to those observed in Zellweger syndrome J Pediatr 108 1986 19 24
    • (1986) J Pediatr , vol.108 , pp. 19-24
    • Elk, J.1    Kase, B.F.2    Reith, A.3
  • 27
    • 0027607385 scopus 로고
    • Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography continuous flow/fast atom bombardment mass spectrometry
    • J.E. Evans A. Ghosh B.A. Evans Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography continuous flow/fast atom bombardment mass spectrometry Biol Mass Spectrometry 22 1993 331 337
    • (1993) Biol Mass Spectrometry , vol.22 , pp. 331-337
    • Evans, J.E.1    Ghosh, A.2    Evans, B.A.3
  • 28
    • 0021806511 scopus 로고
    • Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome)
    • H. Eyssen F. Eggermont Van Eldere J. Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome) Acta Paediatr Scand 74 1985 539 544
    • (1985) Acta Paediatr Scand , vol.74 , pp. 539-544
    • Eyssen, H.1    Eggermont, F.2    Van Eldere, J.3
  • 29
    • 0022626531 scopus 로고
    • Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities
    • S. Goldfisher J. Collins I. Rapin Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities J Pediatr 108 1986 25 32
    • (1986) J Pediatr , vol.108 , pp. 25-32
    • Goldfisher, S.1    Collins, J.2    Rapin, I.3
  • 30
    • 0015848845 scopus 로고
    • Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome
    • S. Goldfisher C.L. Moore A.B. Johnson Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome Science 182 1973 62 64
    • (1973) Science , vol.182 , pp. 62-64
    • Goldfisher, S.1    Moore, C.L.2    Johnson, A.B.3
  • 31
    • 0016550917 scopus 로고
    • The metabolism of 3 alpha, 7 alpha, 12 alpha, trihydroxy-5 beta-cholestan-26 oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies
    • R.F. Hanson J.N. Isenberg G.C. Williams The metabolism of 3 alpha, 7 alpha, 12 alpha, trihydroxy-5 beta-cholestan-26 oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies J Clin Invest 56 1975 577
    • (1975) J Clin Invest , vol.56 , pp. 577
    • Hanson, R.F.1    Isenberg, J.N.2    Williams, G.C.3
  • 32
    • 0017724374 scopus 로고
    • Hepatic lesions and hemolysis following administration of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestan-26 oyl taurine in rats
    • R.F. Hanson G.C. Williams D. Hachey Hepatic lesions and hemolysis following administration of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestan-26 oyl taurine in rats J Lab Clin Med 90 1977 536
    • (1977) J Lab Clin Med , vol.90 , pp. 536
    • Hanson, R.F.1    Williams, G.C.2    Hachey, D.3
  • 33
    • 0020574070 scopus 로고
    • Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
    • H.S.A. Heymans R.B.H. Schutgens R. Tan Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome) Nature 306 1983 69
    • (1983) Nature , vol.306 , pp. 69
    • Heymans, H.S.A.1    Schutgens, R.B.H.2    Tan, R.3
  • 34
    • 0026508548 scopus 로고
    • 3β-Hydroxy-Δ5-C27 steroid dehydrogenase deficiency: Effect of chenodeoxycholic acid therapy on liver histology
    • 27 steroid dehydrogenase deficiency: Effect of chenodeoxycholic acid therapy on liver histology J Inherit Metab Dis 15 1992 38 46
    • (1992) J Inherit Metab Dis , vol.15 , pp. 38-46
    • Horslen, S.P.1    Lawson, A.M.2    Malone, M.3
  • 35
    • 0025834646 scopus 로고
    • Bile acids and bile alcohols in a child with hepatic 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency: Effects of chenodeoxycholic acid treatment
    • 27-steroid dehydrogenase deficiency: Effects of chenodeoxycholic acid treatment J Lipid Res 32 1991 829 841
    • (1991) J Lipid Res , vol.32 , pp. 829-841
    • Ichimiya, H.1    Egestad, B.2    Nazer, H.3
  • 36
    • 0025186139 scopus 로고
    • Treatment of chronic liver disease caused by 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid
    • 27-steroid dehydrogenase deficiency with chenodeoxycholic acid Arch Dis Child 65 1990 1121 1124
    • (1990) Arch Dis Child , vol.65 , pp. 1121-1124
    • Ichimiya, H.1    Nazer, H.2    Gunasekaran, T.3
  • 37
    • 85119790034 scopus 로고    scopus 로고
    • Antenatal therapy of Smith-Lemli-Opitz syndrome [abstr]
    • M.B. Irons J. Nores T.L. Stewart Antenatal therapy of Smith-Lemli-Opitz syndrome [abstr] Pediatr Res 43 1998 125A
    • (1998) Pediatr Res , vol.43 , pp. 125A
    • Irons, M.B.1    Nores, J.2    Stewart, T.L.3
  • 38
    • 0029666289 scopus 로고    scopus 로고
    • Disruption of cholesterol 7alpha-hydroxylase gene in mice: I. Postnatal lethality reversed by bile acid and vitamin supplementation
    • S. Ishibashi M. Schwarz P.K. Frykman Disruption of cholesterol 7alpha-hydroxylase gene in mice: I. Postnatal lethality reversed by bile acid and vitamin supplementation J Biol Chem 271 1996 18017 18023
    • (1996) J Biol Chem , vol.271 , pp. 18017-18023
    • Ishibashi, S.1    Schwarz, M.2    Frykman, P.K.3
  • 39
    • 0028303784 scopus 로고
    • Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease)
    • E. Jacquemin M. Dumont O. Bernard Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease) Eur J Pediatr 153 1994 424
    • (1994) Eur J Pediatr , vol.153 , pp. 424
    • Jacquemin, E.1    Dumont, M.2    Bernard, O.3
  • 40
    • 0027964355 scopus 로고
    • A new cause of progressive intrahepatic cholestasis: 3β-hydroxy-C27-steroid dehydrogenase/isomerase deficiency
    • 27-steroid dehydrogenase/isomerase deficiency J Pediatr 125 1994 379 384
    • (1994) J Pediatr , vol.125 , pp. 379-384
    • Jacquemin, E.1    Setchell, K.D.R.2    O'Connell, N.C.3
  • 41
    • 0030887829 scopus 로고    scopus 로고
    • New treatment for Smith-Lemli-Opitz syndrome
    • P. Jira R. Wevers de Jong J. New treatment for Smith-Lemli-Opitz syndrome Lancet 349 1997 1222
    • (1997) Lancet , vol.349 , pp. 1222
    • Jira, P.1    Wevers, R.2    de Jong, J.3
  • 42
    • 14444269889 scopus 로고    scopus 로고
    • Perinatal bile acid metabolism: Analysis of urinary bile acids in pregnant women and newborns
    • A. Kimura M. Suzuki T. Murai Perinatal bile acid metabolism: Analysis of urinary bile acids in pregnant women and newborns J Lipid Res 38 1997 1954 1962
    • (1997) J Lipid Res , vol.38 , pp. 1954-1962
    • Kimura, A.1    Suzuki, M.2    Murai, T.3
  • 43
    • 0026619233 scopus 로고
    • Neonatal hemochromatosis
    • A.S. Knisely Neonatal hemochromatosis Adv Pediatr 39 1992 383 403
    • (1992) Adv Pediatr , vol.39 , pp. 383-403
    • Knisely, A.S.1
  • 44
    • 0027979898 scopus 로고
    • Cloning and expression of cDNA of human Δ4-3-oxosteroid 5β-reductase and substrate specificity of the expressed enzyme
    • 4-3-oxosteroid 5β-reductase and substrate specificity of the expressed enzyme Eur J Biochem 219 1994 357 363
    • (1994) Eur J Biochem , vol.219 , pp. 357-363
    • Kondo, K.H.1    Kai, M.H.2    Setoguchi, Y.S.3
  • 45
    • 0026327701 scopus 로고
    • Bile acids and conjugates identified in metabolic disorders by fast atom bombardment and tandem mass spectrometry
    • R. Libert D. Hermans J.P. Draye Bile acids and conjugates identified in metabolic disorders by fast atom bombardment and tandem mass spectrometry Clin Chem 37 1991 2102 2110
    • (1991) Clin Chem , vol.37 , pp. 2102-2110
    • Libert, R.1    Hermans, D.2    Draye, J.P.3
  • 47
    • 0030753125 scopus 로고    scopus 로고
    • Molecular aspects of hepatobiliary transport
    • Muller P.L. Jansen Molecular aspects of hepatobiliary transport Am J Physiol 272 1997 G1285 G1303
    • (1997) Am J Physiol , vol.272 , pp. G1285-G1303
    • Muller1    Jansen, P.L.2
  • 49
    • 0025810176 scopus 로고
    • Molecular cloning and sequence analysis of cDNA encoding Δ4-3-ketosteroid 5β-reductase of rat liver
    • 4-3-ketosteroid 5β-reductase of rat liver FEBS Lett 283 1991 215 218
    • (1991) FEBS Lett , vol.283 , pp. 215-218
    • Onishi, Y.1    Noshiro, M.2    Shimosato, T.3
  • 50
    • 0025782611 scopus 로고
    • Cerebrotendinous xanthomatosis: Treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings
    • J. Peynet A. Laurent de Liege P. Cerebrotendinous xanthomatosis: Treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings Neurology 41 1991 434 436
    • (1991) Neurology , vol.41 , pp. 434-436
    • Peynet, J.1    Laurent, A.2    de Liege, P.3
  • 54
    • 0030845921 scopus 로고    scopus 로고
    • Identification and characterization of a mouse oxysterol 7alpha-hydroxylase cDNA
    • M. Schwarz E.G. Lund R. Lathe Identification and characterization of a mouse oxysterol 7alpha-hydroxylase cDNA J Biol Chem 272 1997 23995 24001
    • (1997) J Biol Chem , vol.272 , pp. 23995-24001
    • Schwarz, M.1    Lund, E.G.2    Lathe, R.3
  • 55
    • 0029666290 scopus 로고    scopus 로고
    • Disruption of cholesterol 7alpha-hydroxylase gene in mice: II. Bile acid deficiency is overcome by induction of oxysterol 7alpha-hydroxylase
    • M. Schwarz E.G. Lund K.D.R. Setchell Disruption of cholesterol 7alpha-hydroxylase gene in mice: II. Bile acid deficiency is overcome by induction of oxysterol 7alpha-hydroxylase J Biol Chem 271 1996 18024 18031
    • (1996) J Biol Chem , vol.271 , pp. 18024-18031
    • Schwarz, M.1    Lund, E.G.2    Setchell, K.D.R.3
  • 56
    • 0008699862 scopus 로고
    • Oral bile acid therapy in the treatment of inborn errors in bile acid synthesis associated with liver disease
    • K.D.R. Setchell W.F. Balistreri D.A. Piccoli Oral bile acid therapy in the treatment of inborn errors in bile acid synthesis associated with liver disease Paumgartner G. Stiehl A. Gerok Bile Acids as Therapeutic Agents: From Basic Science to Clinical Practice 1990 Kluwer Academic Boston 367 373
    • (1990) , pp. 367-373
    • Setchell, K.D.R.1    Balistreri, W.F.2    Piccoli, D.A.3
  • 57
    • 0026571062 scopus 로고
    • Oral bile acid treatment and the patient with Zellweger syndrome
    • K.D.R. Setchell P. Bragetti Z. Zimmer-Nechemias Oral bile acid treatment and the patient with Zellweger syndrome Hepatology 15 1992 198 207
    • (1992) Hepatology , vol.15 , pp. 198-207
    • Setchell, K.D.R.1    Bragetti, P.2    Zimmer-Nechemias, Z.3
  • 58
    • 0012149063 scopus 로고    scopus 로고
    • Absence of bile acid conjugation: A new inborn error in bile acid metabolism
    • K.D.R. Setchell J.E. Heubi N.C. O'Connell Absence of bile acid conjugation: A new inborn error in bile acid metabolism Hepatology 24 1996 371A
    • (1996) Hepatology , vol.24 , pp. 371A
    • Setchell, K.D.R.1    Heubi, J.E.2    O'Connell, N.C.3
  • 59
    • 85030303791 scopus 로고    scopus 로고
    • Identification of a new inborn error in bile acid synthesis involving 7α-hydroxylation—a cause of severe liver disease
    • K.D.R. Setchell N.C. O'Connell D.W. Russell Identification of a new inborn error in bile acid synthesis involving 7α-hydroxylation—a cause of severe liver disease Gastroenterology 112 1997 A1379
    • (1997) Gastroenterology , vol.112 , pp. A1379
    • Setchell, K.D.R.1    O'Connell, N.C.2    Russell, D.W.3
  • 60
    • 0024246224 scopus 로고
    • Δ4-3-oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis: A new inborn error in bile acid synthesis
    • 4-3-oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis: A new inborn error in bile acid synthesis J Clin Invest 82 1988 2148 2157
    • (1988) J Clin Invest , vol.82 , pp. 2148-2157
    • Setchell, K.D.R.1    Suchy, F.J.2    Welsh, M.B.3
  • 61
    • 0016223896 scopus 로고
    • A biochemical abnormality in cerebrotendinous xanthomatosis: Impairment of bile acid biosynthesis associated with complete degradation of cholesterol side-chain
    • T. Setoguchi G. Salen G.S. Tint A biochemical abnormality in cerebrotendinous xanthomatosis: Impairment of bile acid biosynthesis associated with complete degradation of cholesterol side-chain J Clin Invest 53 1974 1393 1401
    • (1974) J Clin Invest , vol.53 , pp. 1393-1401
    • Setoguchi, T.1    Salen, G.2    Tint, G.S.3
  • 62
    • 0028884255 scopus 로고
    • Markedly inhibited 7-dehydrocholesterol-Δ7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes
    • 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes J Clin Invest 96 1995 1779 1785
    • (1995) J Clin Invest , vol.96 , pp. 1779-1785
    • Shefer, S.1    Salen, G.2    Batta, A.K.3
  • 63
    • 0030941882 scopus 로고    scopus 로고
    • Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia
    • B.L. Shneider V.L. Fox K.B. Schwarz Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia Hepatology 25 1997 1176 1183
    • (1997) Hepatology , vol.25 , pp. 1176-1183
    • Shneider, B.L.1    Fox, V.L.2    Schwarz, K.B.3
  • 64
    • 0028177674 scopus 로고
    • Δ4-3-oxosteroid 5β-reductase deficiency causing neonatal liver failure and hemochromatosis
    • 4-3-oxosteroid 5β-reductase deficiency causing neonatal liver failure and hemochromatosis J Pediatr 124 1994 234 238
    • (1994) J Pediatr , vol.124 , pp. 234-238
    • Shneider, B.L.1    Setchell, K.D.R.2    Whitington, P.F.3
  • 65
    • 0030766372 scopus 로고    scopus 로고
    • Abnormal bile acid metabolism and neonatal hemochromatosis: A subset with poor prognosis
    • C.G. Siafakas M.M. Jonas A.R. Perez-Atayde Abnormal bile acid metabolism and neonatal hemochromatosis: A subset with poor prognosis J Pediatr Gastroenterol Nutr 25 1997 321 326
    • (1997) J Pediatr Gastroenterol Nutr , vol.25 , pp. 321-326
    • Siafakas, C.G.1    Jonas, M.M.2    Perez-Atayde, A.R.3
  • 66
    • 0031055817 scopus 로고    scopus 로고
    • Biochemistry of peroxisomes in health and disease
    • I. Singh Biochemistry of peroxisomes in health and disease Mol Cell Biochem 167 1997 1 29
    • (1997) Mol Cell Biochem , vol.167 , pp. 1-29
    • Singh, I.1
  • 67
    • 0027363563 scopus 로고
    • Homozygous disruption of the murine mdr2 p-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease
    • J.J.M. Smit A.H. Schinkel Oude Elferink R.P.J. Homozygous disruption of the murine mdr2 p-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease Cell 75 1993 451 462
    • (1993) Cell , vol.75 , pp. 451-462
    • Smit, J.J.M.1    Schinkel, A.H.2    Oude Elferink, R.P.J.3
  • 68
    • 0013584068 scopus 로고
    • A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings
    • D.W. Smith A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings J Pediatr 67 1965 617
    • (1965) J Pediatr , vol.67 , pp. 617
    • Smith, D.W.1
  • 69
    • 0031055345 scopus 로고    scopus 로고
    • Differential interaction of bile acids from patients with inborn errors of bile acid synthesis with hepatocellular bile acid transporters
    • B. Stieger J. Zhang B. O'Neill Differential interaction of bile acids from patients with inborn errors of bile acid synthesis with hepatocellular bile acid transporters Eur J Biochem 244 1997 39 44
    • (1997) Eur J Biochem , vol.244 , pp. 39-44
    • Stieger, B.1    Zhang, J.2    O'Neill, B.3
  • 70
    • 0029989941 scopus 로고    scopus 로고
    • Locus heterogeneity in progressive familial intrahepatic cholestasis
    • S.S. Strautnieks A.F. Kagalwalla M.S. Tanner Locus heterogeneity in progressive familial intrahepatic cholestasis J Med Genet 33 1996 833 836
    • (1996) J Med Genet , vol.33 , pp. 833-836
    • Strautnieks, S.S.1    Kagalwalla, A.F.2    Tanner, M.S.3
  • 71
    • 0030869696 scopus 로고    scopus 로고
    • Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24
    • S.S. Strautnieks A.F. Kagalwalla M.S. Tanner Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24 Am J Hum Genet 61 1997 630 633
    • (1997) Am J Hum Genet , vol.61 , pp. 630-633
    • Strautnieks, S.S.1    Kagalwalla, A.F.2    Tanner, M.S.3
  • 72
    • 25044445575 scopus 로고    scopus 로고
    • Clinical course, histology of the liver, and composition and ultrastructure of bile in progressive familial intrahepatic cholestasis linked to chromosome 2q24
    • S.S. Strautnieks R.J. Thompson N.C. O'Connell Clinical course, histology of the liver, and composition and ultrastructure of bile in progressive familial intrahepatic cholestasis linked to chromosome 2q24 Hepatology 26 1997 606A
    • (1997) Hepatology , vol.26 , pp. 606A
    • Strautnieks, S.S.1    Thompson, R.J.2    O'Connell, N.C.3
  • 73
    • 0027432366 scopus 로고
    • Bile acids for babies? Diagnosis and treatment of a new category of metabolic liver disease [edit]
    • F.J. Suchy Bile acids for babies? Diagnosis and treatment of a new category of metabolic liver disease [edit] Hepatology 18 1993 1274 1277
    • (1993) Hepatology , vol.18 , pp. 1274-1277
    • Suchy, F.J.1
  • 74
    • 0030911123 scopus 로고    scopus 로고
    • Determination of 3-oxo-delta4- and 3-oxo-delta4, 6-bile acids and related compounds in biological fluids of infants with cholestasis by gas chromatography-mass spectrometry
    • M. Suzuki T. Murai T. Yoshimura Determination of 3-oxo-delta4- and 3-oxo-delta4, 6-bile acids and related compounds in biological fluids of infants with cholestasis by gas chromatography-mass spectrometry J Chromatogr B Biomed Sci Appl 693 1997 11 21
    • (1997) J Chromatogr B Biomed Sci Appl , vol.693 , pp. 11-21
    • Suzuki, M.1    Murai, T.2    Yoshimura, T.3
  • 75
    • 0023787388 scopus 로고
    • Zellweger-like syndrome with detectable hepatic peroxisomes: A variant form of peroxisomal disorder
    • Y. Suzuki N. Shimozawa T. Ori Zellweger-like syndrome with detectable hepatic peroxisomes: A variant form of peroxisomal disorder J Pediatr 113 1988 841 845
    • (1988) J Pediatr , vol.113 , pp. 841-845
    • Suzuki, Y.1    Shimozawa, N.2    Ori, T.3
  • 76
    • 0022259173 scopus 로고
    • Bile acid profiles in siblings with progressive intrahepatic cholestasis: Absence of biliary chenodeoxycholate
    • Y. Tazawa M. Yamada M. Nakagawa Bile acid profiles in siblings with progressive intrahepatic cholestasis: Absence of biliary chenodeoxycholate J Pediatr Gastroenterol Nutr 4 1985 32 37
    • (1985) J Pediatr Gastroenterol Nutr , vol.4 , pp. 32-37
    • Tazawa, Y.1    Yamada, M.2    Nakagawa, M.3
  • 77
    • 2642620230 scopus 로고    scopus 로고
    • Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia
    • B.L. Therrell S.A. Berenbaum V. Manter-Kapanke Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia Pediatrics 101 1998 583 590
    • (1998) Pediatrics , vol.101 , pp. 583-590
    • Therrell, B.L.1    Berenbaum, S.A.2    Manter-Kapanke, V.3
  • 78
    • 0345547918 scopus 로고    scopus 로고
    • Identification of a second locus for progressive intrahepatic familial cholestasis on chromosome 2q24
    • R.J. Thompson S.S. Strautnieks A.F. Kagalwalla Identification of a second locus for progressive intrahepatic familial cholestasis on chromosome 2q24 Hepatology 26 1997 383A
    • (1997) Hepatology , vol.26 , pp. 383A
    • Thompson, R.J.1    Strautnieks, S.S.2    Kagalwalla, A.F.3
  • 79
    • 0000727177 scopus 로고
    • Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
    • G.S. Tint M. Irons E.R. Elias Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome N Engl J Med 330 1994 107 113
    • (1994) N Engl J Med , vol.330 , pp. 107-113
    • Tint, G.S.1    Irons, M.2    Elias, E.R.3
  • 80
    • 0030860855 scopus 로고    scopus 로고
    • Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency
    • M. Une M. Konishi Y. Suzuki Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency J Biochem 122 1997 655 658
    • (1997) J Biochem , vol.122 , pp. 655-658
    • Une, M.1    Konishi, M.2    Suzuki, Y.3
  • 83
    • 0024554078 scopus 로고
    • Peroxisomal bi-functional enzyme deficiency
    • P.A. Watkins W.W. Chen C.J. Harris Peroxisomal bi-functional enzyme deficiency J Clin Invest 83 1989 771 777
    • (1989) J Clin Invest , vol.83 , pp. 771-777
    • Watkins, P.A.1    Chen, W.W.2    Harris, C.J.3
  • 84
    • 0028107618 scopus 로고
    • Clinical and biochemical findings in progressive familial intrahepatic cholestasis
    • P.F. Whitington D.K. Freese E.M. Alonso Clinical and biochemical findings in progressive familial intrahepatic cholestasis J Pediatr Gastroenterol Nutr 18 1994 134 141
    • (1994) J Pediatr Gastroenterol Nutr , vol.18 , pp. 134-141
    • Whitington, P.F.1    Freese, D.K.2    Alonso, E.M.3
  • 85
    • 0026825517 scopus 로고
    • Case 3: A new category of causes of intrahepatic cholestasis
    • C.L. Witzleben D.A. Piccoli K.D.R. Setchell Case 3: A new category of causes of intrahepatic cholestasis Pediatr Pathol 12 1992 269 274
    • (1992) Pediatr Pathol , vol.12 , pp. 269-274
    • Witzleben, C.L.1    Piccoli, D.A.2    Setchell, K.D.R.3


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